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Disease - Spastic paraplegia 47, autosomal recessive

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Definition

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development.

Acronym

SPG47

Synonyms

Cerebral palsy, spastic quadriplegic 5
CPSQ5

Keywords

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It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.
Our staff consists of biologists and biochemists that are not trained to give medical advice.

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